WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
Disease: Frasier Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GeneticVariation disease BEFREE Genetic analysis using standard methods for DNA sequencing confirmed FS due to a WT1 gene mutation, IVS9+4C>T. 22908070 2013
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 CausalMutation disease CLINVAR Frasier syndrome: four new cases with unusual presentations. 23295293 2012
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 Biomarker disease BEFREE Therefore, molecular screening of WT1 gene is very important to confirm the FS diagnosis. 23295293 2012
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 CausalMutation disease CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GeneticVariation disease BEFREE The Wilms tumor 1 (WT1) gene is currently in focus by pediatric nephrologists as its mutations are associated with nephrotic syndrome, especially as part of complex clinical entities like Denys-Drash or Frasier syndrome. 23618379 2013
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Genotype-phenotype associations in WT1 glomerulopathy. 24402088 2014
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 CausalMutation disease CLINVAR Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. 24856380 2014
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GermlineCausalMutation disease ORPHANET Gonadal tumor in Frasier syndrome: a review and classification. 25623218 2015
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 CausalMutation disease CLINVAR Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1. 25818337 2015
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 CausalMutation disease CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2017